Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anemia |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D2, 227646, Fanconi Anaemia, Fanconi Anemia |
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anemia, 227646 Fanconi anemia, complementation group D2, Fanconi anemia, complementation group D2, 227646 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure FA, (typ AR), AML, leukaemia, Fanconi anaemia D2, MDS, AML, Acute myeloid leukaemia (AML), Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D2, 227646, Radial Ray abnormality |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D2, OMIM:227646 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCD2, FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D2, 227646 (Microcephaly) |